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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:pigmented paravenous chorioretinal atrophy
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Accession:DOID:0111541 term browser browse the term
Definition:An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in CRB1 on chromosome 1q31.3. (DO)
Synonyms:exact_synonym: PPCRA;   PPRCA
 primary_id: MESH:C566801
 alt_id: OMIM:172870
 xref: ORDO:251295
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      eye disease 3172
        Hereditary Eye Diseases 755
          pigmented paravenous chorioretinal atrophy 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                pigmented paravenous chorioretinal atrophy 1
paths to the root